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Limb Girdle Muscular Dystrophy Advanced Evaluation
Test Code901615
CPT Codes
81404 (x3), 81405 (x7), 81406 (x6), 81408, 81479<br>Limited Access Code
Physician Attestation of Informed Consent
This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.
Preferred Specimen
8 mL whole blood collected in two EDTA (lavender-top) tubes
Pediatric (0-3 years): 2 mL
Pediatric (0-3 years): 2 mL
Minimum Volume
6 mL • Pediatric: 1 mL
Instructions
Overnight shipping preferred
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Methodology
Next Generation Sequencing
FDA Status
This test was developed and its analytical performance characteristics have been determined by Athena Diagnostics. It has not been cleared or approved by the FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: Varies; Report available: 21-28 days
Reference Range
See Laboratory Report
Clinical Significance
Detects sequence variations in 23 genes, including duplications/deletions in three of these genes (CAPN3, SGCA and SGCG) in patients with Limb Girdle Muscular Dystrophy (LGMD). LGMD is highly heterogeneous in inheritance, comorbidities, and involvement of other organ systems. Patients usually have proximal weakness in the shoulder and hip muscles (i.e. limb girdle muscles).